Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00341:Tmem64'

6708

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem64

Ensembl Gene

ENSMUSG00000043252

Gene Name

transmembrane protein 64

Synonyms

9630015D15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

IGL00341

Quality Score

Status

Chromosome

Chromosomal Location

15265831-15286753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15266694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 248 (V248E)

Ref Sequence

ENSEMBL: ENSMUSP00000055892 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062684]

AlphaFold

Q3U145

Predicted Effect

probably damaging
Transcript: ENSMUST00000062684
AA Change: V248E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000055892
Gene: ENSMUSG00000043252
AA Change: V248E

Domain	Start	End	E-Value	Type
transmembrane domain	50	72	N/A	INTRINSIC
transmembrane domain	87	104	N/A	INTRINSIC
transmembrane domain	124	146	N/A	INTRINSIC
Pfam:SNARE_assoc	173	296	2.2e-21	PFAM
transmembrane domain	309	331	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap allele exhibit impaired osteoclast differentiation, enhanced osteoblast differentiation and increased bone mass. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef5	T	A	6: 43,257,203 (GRCm39)	Y519*	probably null	Het
Bahcc1	A	G	11: 120,163,130 (GRCm39)	Y476C	probably damaging	Het
Bclaf1	A	T	10: 20,201,745 (GRCm39)	E295D	probably damaging	Het
Bend3	A	G	10: 43,387,539 (GRCm39)	D644G	probably damaging	Het
Ccdc122	G	A	14: 77,329,179 (GRCm39)	M77I	probably benign	Het
Ccna1	A	G	3: 54,958,076 (GRCm39)	V143A	probably damaging	Het
Dnah11	T	C	12: 118,162,480 (GRCm39)	R30G	probably benign	Het
Hoxc4	A	G	15: 102,944,264 (GRCm39)	D214G	probably damaging	Het
Itsn2	A	T	12: 4,708,027 (GRCm39)	T778S	possibly damaging	Het
Kcnn2	A	G	18: 45,810,138 (GRCm39)		probably benign	Het
Krtap5-3	G	T	7: 141,755,612 (GRCm39)		probably benign	Het
Lgr5	G	T	10: 115,290,369 (GRCm39)	Q516K	possibly damaging	Het
Lrpprc	T	C	17: 85,057,953 (GRCm39)	K759R	possibly damaging	Het
Mtfr2	A	G	10: 20,233,394 (GRCm39)	D321G	probably damaging	Het
Nip7	A	G	8: 107,783,802 (GRCm39)	Y45C	possibly damaging	Het
Or4c111	T	C	2: 88,844,268 (GRCm39)	I47V	probably benign	Het
Pak1ip1	A	T	13: 41,161,494 (GRCm39)	T84S	possibly damaging	Het
Ptpn20	C	A	14: 33,344,576 (GRCm39)	R167S	probably benign	Het
Rab4b	C	T	7: 26,872,151 (GRCm39)	G190S	probably damaging	Het
Ropn1l	T	A	15: 31,443,495 (GRCm39)	D179V	probably damaging	Het
Shc2	C	T	10: 79,456,903 (GRCm39)	R571Q	probably damaging	Het
Smad1	A	G	8: 80,083,098 (GRCm39)	V134A	probably damaging	Het
Smad6	A	G	9: 63,861,263 (GRCm39)	V344A	probably damaging	Het
Tet2	A	G	3: 133,193,846 (GRCm39)	L196P	possibly damaging	Het
Ttc7	C	T	17: 87,670,992 (GRCm39)	T709I	possibly damaging	Het
Usp31	A	G	7: 121,305,893 (GRCm39)	L195P	probably damaging	Het
Vmn2r112	G	A	17: 22,837,917 (GRCm39)	V793I	probably benign	Het
Xpo5	T	G	17: 46,535,973 (GRCm39)	L535R	probably damaging	Het
Ythdc2	A	T	18: 44,983,464 (GRCm39)	M544L	probably benign	Het

Other mutations in Tmem64

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02407:Tmem64	APN	4	15,266,584 (GRCm39)	missense	probably damaging	1.00
PIT4151001:Tmem64	UTSW	4	15,283,159 (GRCm39)	missense	probably damaging	1.00
R0257:Tmem64	UTSW	4	15,266,343 (GRCm39)	missense	probably damaging	1.00
R0737:Tmem64	UTSW	4	15,266,717 (GRCm39)	missense	probably damaging	0.98
R2217:Tmem64	UTSW	4	15,266,658 (GRCm39)	missense	possibly damaging	0.89
R2218:Tmem64	UTSW	4	15,266,658 (GRCm39)	missense	possibly damaging	0.89
R2571:Tmem64	UTSW	4	15,266,718 (GRCm39)	missense	probably damaging	1.00
R5133:Tmem64	UTSW	4	15,281,119 (GRCm39)	missense	probably damaging	1.00
R5707:Tmem64	UTSW	4	15,266,288 (GRCm39)	missense	probably damaging	0.98
R7219:Tmem64	UTSW	4	15,266,700 (GRCm39)	missense	probably damaging	1.00
R7498:Tmem64	UTSW	4	15,266,176 (GRCm39)	missense	probably benign	0.00
R8967:Tmem64	UTSW	4	15,266,575 (GRCm39)	missense	probably damaging	0.99
R9086:Tmem64	UTSW	4	15,266,718 (GRCm39)	missense	probably damaging	1.00
R9093:Tmem64	UTSW	4	15,266,391 (GRCm39)	missense	probably benign	0.35

Posted On

2012-04-20